The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA REACH UK register:
- over a 5-year period (2019-2023), 25 deaths were recorded among the 533 children listed in the said register,
- one of them had a very severe form (SMA type 0), 20 had SMA type I and 4 had SMA type II,
- the cause of death was almost always respiratory,
- only 20 of the 25 children had received an innovative therapy (gene therapy, nusinersen or risdiplam),
- the early onset of symptoms and the low number of copies of the SNM2 gene remain factors with a poor prognosis.
The authors argue in favour of early screening for SMA, ideally during the neonatal period, when symptoms are rarely present.
